Children have the right to a full life.
This doesn't relate only to the length of their life, but the quality of life they have. Children with rare disease often live with suffering and the chance of early death, so they need things like relationships, work, play, education and enjoyment. Healthy children and children with rare disease have the same rights to these things.
To achieve a full life, children with rare disease and their carers need support across many areas including health, financial, mental health, education and others.
Rare diseases are a major child health issue.
Although each rare disease is rare, as a group, they are common. Up to 10% of the population may have a rare disease. Rare diseases are often associated with pain, disability, uncertainty and early death. New information suggests that more than half of rare diseases start in childhood. This creates a large burden on children and their families very early in life.
To improve health and social outcomes for children and families living with rare disease, Governments must recognise that there is an unmet need. This need must be addressed with positive policy that allows the burden of rare disease to be recognised, and the best interests of these children to be met.
The United Nations Convention on the Rights of the Child (UNCRC) applies to children across the world. Rare disease can also impact any child or family regardless of their race, social status, abilities, or family history.
Even though each rare disease only affects a small number of people (often defined as one person in 2000), there are many rare diseases which means that across the world there is a huge number of people affected. Some estimates indicate that 6% and 10% of the population have a rare disease, and there is estimated to be 63,000 children living with rare diseases in Western Australia alone.
The total number of people affected by rare disease creates a global and universal health issue.
Ethical conflicts erupt for doctors as the Australian government overrides their clinical decisions for refugees. What happens to their medical ethics? What happens to their patients? This documentary exposes a medical system where the best interest of refugee patients is not at play and doctors fight back against this. The government says their offshore deterrence system protecting Australian borders will fall apart with the recent passing of the Urgent Medical Transfer Bill. How will this conflict be resolved when many lives are at stake?
Medical ethics is at the core of this powerful film as it lifts the lid on this issue by getting behind hospital doors and hearing first hand from the clinicians. The film will educate Australians and remind health practitioners of the ethics they must follow.
This year’s Fiona Stanley Forum, to be held on the eve of the expected Federal Election, will see the launch of @ARACYAustralia policy priorities for the next Australian Government. https://www.aracy.org.au/events/event/fiona-stanley-forum-2019
Progress in the area of Rare Diseases
Whilst children and their families living with rare diseases undoubtedly face enormous challenges, it is a time of increasing opportunity and convergence, in Australia and internationally. The current consultation around the National Rare Diseases Strategic Framework is particularly notable not only because of its great importance to the rare diseases community, but also because that consultation is being led by the community through Rare Voices Australia.
This month some notable international events occurred on a background of globally increasing recognition of rare diseases as a public health priority. At United Nations headquarters in New York, was the second meeting of the NGO Committee for Rare Diseases , established under the umbrella of the Conference of NGOs in Consultative Relationship with the United Nations .
At Microsoft New York Headquarters was a meeting of the Global Commission to End the Diagnostic Odyssey for Children with Rare Genetic Diseases. Both of these are a testament to the power of the united patient voice to drive partnerships for change.
The importance of addressing rare diseases initiatives in Indigenous populations has also been further emphasised recently, including with the endorsement of an Indigenous populations taskforce through the diagnostics scientific committee of the International Rare Diseases Research Consortium.
Also, there was the launch of Life Languages, in affiliation with the United Nations Year of Indigenous Languages. Life Languages is to retain and empower Indigenous languages and through this to help equitably transform (genomic) medicine and create connected communities. It has commenced through the first two Life Language Champions, Aboriginal medical students Yarlalu Thomas and Shamir Rind.
Professor Gareth Baynam
Clinical geneticist, Head Western Australian Register of Developmental Anomalies
ACAH Board member
26th February 2019